Adams-Oliver syndrome

What is Adams-Oliver syndrome?

This rare disease is a genetic condition that affects the limbs and scalp of individuals affected, as well as their skin development.

Symptoms of the syndrome may vary widely between individuals, ranging from mild to severe. However it is most commonly present at birth.

Its exact prevalence is currently unknown.

What gene changes cause Adams-Oliver syndrome?

Mutations in any of the following genes may cause the syndrome: ARHGAP31, DLL4, DOCK6, EOGT, NOTCH1, RBPJ.

However there are cases in which none of these genes have been found responsible, suggesting that there are other genes responsible for causing the syndrome.

The condition is inherited in an autosomal dominant or autosomal recessive pattern depending on which gene causes the syndrome.

Autosomal recessive inheritance means an affected individual receives one copy of a mutated gene from each of their parents, giving them two copies of a mutated gene. Parents, who carry only one copy of the gene mutation will not generally show any symptoms, but have a 25% chance of passing the copies of the gene mutations onto each of their children.

In the case of autosomal dominant inheritance just one parent is the carrier of the gene mutation, and they have a 50% chance of passing it onto each of their children. Syndromes inherited in an autosomal dominant inheritance are caused by just one copy of the gene mutation.

What are the main symptoms of Adams-Oliver syndrome?

Symptoms generally present at birth. One common syndrome is aplasia cutis congenita- this is when localized areas of skin are missing from the top of the head or scalp.

Generally the nails, fingers and toes of affected individuals may be short and or fused together.

Another common symptom in infants is marmorata telangiectatica congenita, which is where a disorder relating to the blood vessels creates a reddish or purplish net like pattern on the skin.
High blood pressure in the blood vessel is one possible severe symptom of the syndrome.

Developmental delay and intellectual disability are symptoms for some individuals with the syndrome.

How does someone get tested for Adams-Oliver syndrome?

The initial testing for Adams-Oliver syndrome can begin with facial analysis screening, through the FDNA Telehealth telegenetics platform, which can identify the key markers of the syndrome and outline the need for further testing. A consultation with a genetic counselor and then a geneticist will follow. 

Based on this clinical consultation with a geneticist, the different options for genetic testing will be shared and consent will be sought for further testing.   

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